Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.

Keeling, K M; Brooks, D A; Hopwood, J J; Li, P; Thompson, J N; Bedwell, D M

Keeling, K M; Brooks, D A; Hopwood, J J; Li, P; Thompson, J N; Bedwell, D M.

Affiliation

Keeling KM; Department of Human Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-2170, USA.

Hum Mol Genet ; 10(3): 291-9, 2001 Feb 01.

Article in En | MEDLINE | ID: mdl-11159948

Subject(s)

Anti-Bacterial Agents/pharmacology; Gentamicins/pharmacology; Glycosaminoglycans/metabolism; Iduronidase/drug effects; Lysosomes/drug effects; Mucopolysaccharidosis I/enzymology; Cell Line; Codon, Terminator/genetics; Dose-Response Relationship, Drug; Fibroblasts/drug effects; Fibroblasts/enzymology; Fibroblasts/metabolism; HSP70 Heat-Shock Proteins/drug effects; HSP70 Heat-Shock Proteins/metabolism; Humans; Iduronidase/genetics; Iduronidase/metabolism; Lysosomes/metabolism; Mucopolysaccharidosis I/genetics; Mucopolysaccharidosis I/pathology; Mutation

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Collection: 01-internacional Database: MEDLINE Main subject: Gentamicins / Mucopolysaccharidosis I / Glycosaminoglycans / Iduronidase / Lysosomes / Anti-Bacterial Agents Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2001 Document type: Article Affiliation country: United States

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